ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.4G>A (p.Gly2Ser)

dbSNP: rs372082751
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160955 SCV000211663 uncertain significance not provided 2023-08-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21111057)
Labcorp Genetics (formerly Invitae), Labcorp RCV000554222 SCV000651755 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2024-12-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2 of the RAD51D protein (p.Gly2Ser). This variant is present in population databases (rs372082751, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. ClinVar contains an entry for this variant (Variation ID: 182866). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000563634 SCV000667150 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-11 criteria provided, single submitter clinical testing The p.G2S variant (also known as c.4G>A), located in coding exon 1 of the RAD51D gene, results from a G to A substitution at nucleotide position 4. The glycine at codon 2 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000554222 SCV004208065 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2023-10-27 criteria provided, single submitter clinical testing

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